Molecular heterogeneity of beta-thalassemia intermedia in turkey

A. Gurgey, Altay, J. C. Diaz-Chico, F. Kutlar, Abdullah Kutlar, T. H.J. Huisman

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

A total of 38 patients with β-thalassemia intermedia from 30 families were studied. Twelve of the thirty unrelated patients had β0-thalassemia which was due to a homozygosity for one of two different thalassemia defects, namely the frameshift at codon 8, and the IVS-II-1 G→A mutation. Another mild variation, a β+-thalassemia, was a homozygosity for the mutation of T→C at position 6 of I VS-1 (10 patients). Compound heterozygosities for mild thalassemic determinants or for one mild and one severe β-thalassemic determinant were also found in some patients with β-thalassemia intermedia. The mutations at β-39 and IVS-I-110 were the most commonly occurring thalassemic determinants in these patients. Correlations between genotype and phenotype indicated significant differences in some of the hematological parameters among patients with the IVS-I-6 and the frameshift at codon 8, IVS-I-6 and IVS-II-1, and the frameshift at codon 8 and IVS-II-1 mutations.

Original languageEnglish (US)
Pages (from-to)22-27
Number of pages6
JournalActa Haematologica
Volume81
Issue number1
DOIs
StatePublished - Jan 1 1989

Keywords

  • Determinant
  • Frameshift at codon 8
  • Genotype
  • Haplotype
  • Mutation
  • Phenotype
  • β-39
  • β-Thalassemia intermedia

ASJC Scopus subject areas

  • Hematology

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  • Cite this

    Gurgey, A., Altay, Diaz-Chico, J. C., Kutlar, F., Kutlar, A., & Huisman, T. H. J. (1989). Molecular heterogeneity of beta-thalassemia intermedia in turkey. Acta Haematologica, 81(1), 22-27. https://doi.org/10.1159/000205394